Article
[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].
Archivos de la Sociedad Espanola de Oftalmologia - 1 Sept 2002
Millá E, Maseras M, Martínez-Gimeno M, Gamundi M J, Assaf H, Esmerado C, Carballo M
Abstract excerpt
OBJECTIVE: Genetic characterization of a series of patients with autosomal dominant retinitis pigmentosa (ADRP). METHODS: All patients underwent complete ophthalmological examination including computerized perimetry, electroretinography and occasionally fluorescein angiography. Blood samples were drawn for genetic analysis of candidate genes namely rhodopsin (RHO), peripherin-RDS, ROM-1, CRX, RP1 and NRL....
Topics
- Amino Acid Substitution
- Basic-Leucine Zipper Transcription Factors
- DNA Mutational Analysis
- DNA-Binding Proteins
- Eye Proteins
- Genes, Dominant
- Homeodomain Proteins
- Humans
- Intermediate Filament Proteins
- Membrane Glycoproteins
- Membrane Proteins
- Microtubule-Associated Proteins